TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors

  title={TERT rearrangements are frequent in neuroblastoma and identify aggressive tumors},
  author={Linda J. Valentijn and Jan Koster and Danny A. Zwijnenburg and Nancy E. Hasselt and Peter van Sluis and Richard Volckmann and Max M. van Noesel and Rani E. George and Godelieve A M Tytgat and Jan J. Molenaar and Rogier Versteeg},
  journal={Nature Genetics},
Whole-genome sequencing detected structural rearrangements of TERT in 17 of 75 high-stage neuroblastomas, with five cases resulting from chromothripsis. Rearrangements were associated with increased TERT expression and targeted regions immediately up- and downstream of TERT, positioning a super-enhancer close to the breakpoints in seven cases. TERT rearrangements (23%), ATRX deletions (11%) and MYCN amplifications (37%) identify three almost non-overlapping groups of high-stage neuroblastoma… CONTINUE READING
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Genes Chromosom

  • Y. Zhao, S. Wang, E. Y. Popova, S. A. Grigoryev, J. Zhu
  • Nature
  • 2015

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